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1
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
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Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

Charles Shaw-Smith Alan M Pittman; Lionel Willatt; Howard Martin; Lisa Rickman; Susan Gribble; Rebecca Curley; Sally Cumming; Carolyn Dunn; Dimitrios Kalaitzopoulos; Keith R Porter; Elena Prigmore; Ana Cristina Victorino Krepischi-Santos; Monica Castro Varela; Célia Priszkulnik Koiffmann; Andrew J Lees; Carla Rosenberg; Helen V Firth; Rohan de Silva; Nigel P Carter

Nature Genetics v. 38, n. 9, p. 1032-1037, sept. 2006

New York 2006

Item não circula. Consulte sua biblioteca.(Acessar)

2
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
Material Type:
Artigo 		Adicionar ao Meu Espaço

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

Charles Shaw-Smith Alan M Pittman; Lionel Willatt; Howard Martin; Lisa Rickman; Susan Gribble; Rebecca Curley; Sally Cumming; Carolyn Dunn; Dimitrios Kalaitzopoulos; Keith R Porter; Elena Prigmore; Ana Cristina Victorino Krepischi; Monica Castro Varela; Celia Priszkulnik Koiffmann; Andrew J Lees; Carla Rosenberg; Helen V Firth; Rohan de Silva; Nigel P Carter

Nature Genetics v. 38, n. 9, p. 1032-1037, sept. 2006

New York 2006

Item não circula. Consulte sua biblioteca.(Acessar)

3
The complex genetics of hypoplastic left heart syndrome
The complex genetics of hypoplastic left heart syndrome
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The complex genetics of hypoplastic left heart syndrome

Liu, Xiaoqin ; Yagi, Hisato ; Saeed, Shazina ; Bais, Abha S ; Gabriel, George C ; Chen, Zhaohan ; Peterson, Kevin A ; Li, You ; Schwartz, Molly C ; Reynolds, William T ; Saydmohammed, Manush ; Gibbs, Brian ; Wu, Yijen ; Devine, William ; Chatterjee, Bishwanath ; Klena, Nikolai T ; Kostka, Dennis ; de Mesy Bentley, Karen L ; Ganapathiraju, Madhavi K ; Dexheimer, Phillip ; Leatherbury, Linda ; Khalifa, Omar ; Bhagat, Anchit ; Zahid, Maliha ; Pu, William ; Watkins, Simon ; Grossfeld, Paul ; Murray, Stephen A ; Porter, Jr, George A ; Tsang, Michael ; Martin, Lisa J ; Benson, D Woodrow ; Aronow, Bruce J ; Lo, Cecilia W

Nature genetics, 2017-07, Vol.49 (7), p.1152-1159 [Periódico revisado por pares]

United States: Nature Publishing Group

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4
Genomic analyses implicate noncoding de novo variants in congenital heart disease
Genomic analyses implicate noncoding de novo variants in congenital heart disease
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Genomic analyses implicate noncoding de novo variants in congenital heart disease

Richter, Felix ; Morton, Sarah U ; Kim, Seong Won ; Kitaygorodsky, Alexander ; Wasson, Lauren K ; Chen, Kathleen M ; Zhou, Jian ; Qi, Hongjian ; Patel, Nihir ; DePalma, Steven R ; Parfenov, Michael ; Homsy, Jason ; Gorham, Joshua M ; Manheimer, Kathryn B ; Velinder, Matthew ; Farrell, Andrew ; Marth, Gabor ; Schadt, Eric E ; Kaltman, Jonathan R ; Newburger, Jane W ; Giardini, Alessandro ; Goldmuntz, Elizabeth ; Brueckner, Martina ; Kim, Richard ; Porter, Jr, George A ; Bernstein, Daniel ; Chung, Wendy K ; Srivastava, Deepak ; Tristani-Firouzi, Martin ; Troyanskaya, Olga G ; Dickel, Diane E ; Shen, Yufeng ; Seidman, Jonathan G ; Seidman, Christine E ; Gelb, Bruce D

Nature genetics, 2020-08, Vol.52 (8), p.769-777 [Periódico revisado por pares]

United States: Nature Publishing Group

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5
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Jin, Sheng Chih ; Homsy, Jason ; Zaidi, Samir ; Lu, Qiongshi ; Morton, Sarah ; DePalma, Steven R ; Zeng, Xue ; Qi, Hongjian ; Chang, Weni ; Sierant, Michael C ; Hung, Wei-Chien ; Haider, Shozeb ; Zhang, Junhui ; Knight, James ; Bjornson, Robert D ; Castaldi, Christopher ; Tikhonoa, Irina R ; Bilguvar, Kaya ; Mane, Shrikant M ; Sanders, Stephan J ; Mital, Seema ; Russell, Mark W ; Gaynor, J William ; Deanfield, John ; Giardini, Alessandro ; Porter, Jr, George A ; Srivastava, Deepak ; Lo, Cecelia W ; Shen, Yufeng ; Watkins, W Scott ; Yandell, Mark ; Yost, H Joseph ; Tristani-Firouzi, Martin ; Newburger, Jane W ; Roberts, Amy E ; Kim, Richard ; Zhao, Hongyu ; Kaltman, Jonathan R ; Goldmuntz, Elizabeth ; Chung, Wendy K ; Seidman, Jonathan G ; Gelb, Bruce D ; Seidman, Christine E ; Lifton, Richard P ; Brueckner, Martina

Nature genetics, 2017-11, Vol.49 (11), p.1593-1601 [Periódico revisado por pares]

United States: Nature Publishing Group

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6
Gene encoding protein elongation factor EEF1A2 is a putative oncogene in ovarian cancer
Gene encoding protein elongation factor EEF1A2 is a putative oncogene in ovarian cancer
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Gene encoding protein elongation factor EEF1A2 is a putative oncogene in ovarian cancer

ANAND, Nisha ; MURTHY, Sabita ; LEE, Jonathan M ; AMANN, Gudrun ; WERNICK, Meredith ; PORTER, Lisa A ; CUKIER, I. Howard ; COLLINS, Colin ; GRAY, Joe W ; DIEBOLD, Joachim ; DEMETRICK, Doug J

Nature genetics, 2002-07, Vol.31 (3), p.301-305 [Periódico revisado por pares]

London: Nature Publishing Group

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7
Reply to 'Double-outlet right ventricle is not hypoplastic left heart syndrome'
Reply to 'Double-outlet right ventricle is not hypoplastic left heart syndrome'
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Reply to 'Double-outlet right ventricle is not hypoplastic left heart syndrome'

Lo, Cecilia W ; Liu, Xiaoqin ; Gabriel, George C ; Martin, Lisa J ; Porter, George A ; Benson, D Woodrow

Nature genetics, 2019-02, Vol.51 (2), p.198-199 [Periódico revisado por pares]

United States: Nature Publishing Group

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8
Construction by gene targeting in human cells of a 'conditional' CDC2 mutant that rereplicates its DNA
Construction by gene targeting in human cells of a 'conditional' CDC2 mutant that rereplicates its DNA
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Construction by gene targeting in human cells of a 'conditional' CDC2 mutant that rereplicates its DNA

Itzhaki, Jane E ; Gilbert, Christopher S ; Porter, Andrew C.G

Nature genetics, 1997-03, Vol.15 (3), p.258-265 [Periódico revisado por pares]

London: Nature Publishing Group

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9
Protein elongation factor EEF1A2 is a putative oncogene in ovarian cancer
Protein elongation factor EEF1A2 is a putative oncogene in ovarian cancer
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Protein elongation factor EEF1A2 is a putative oncogene in ovarian cancer

Lee, Jonathan M ; Anand, Nisha ; Murthy, Sabita ; Amann, Gudrun ; Wernick, Meredith ; Porter, Lisa A ; Cukier, I. Howard ; Collins, Colin ; Gray, Joe W ; Diebold, Joachim ; Demetrick, Doug J

Nature genetics, 2002-07, Vol.31 (3), p.301-305 [Periódico revisado por pares]

United States: Nature Publishing Group

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10
Reply to 'Double-outlet right ventricle is not hypoplastic left heart syndrome'
Reply to 'Double-outlet right ventricle is not hypoplastic left heart syndrome'
Material Type:
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Reply to 'Double-outlet right ventricle is not hypoplastic left heart syndrome'

Lo, Cecilia W ; Liu, Xiaoqin ; Gabriel, George C ; Martin, Lisa J ; Porter, George A ; Benson, D Woodrow

Nature genetics, 2019-02, Vol.51 (2), p.198-3 [Periódico revisado por pares]

New York: Nature Publishing Group

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Deste Autor:

  1. Cumming, S
  2. Gribble, S
  3. Kalaitzopoulos, D
  4. Prigmore, E
  5. Rickman, L

Neste Assunto:

  1. Genetics & Heredity
  2. Life Sciences & Biomedicine
  3. Science & Technology
  4. Humans
  5. Female

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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